A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia
| Autor: | Alhamoudi, Kheloud M., Alswailem, Meshael, Alghamdi, Balgees, Alashwal, Abdullah, Alzahrani, Ali S. |
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| Zdroj: | In Heliyon 15 August 2024 10(15) |
| Databáze: | ScienceDirect |
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